Abstract
Recessive dystrophic epidermolysis bullosa (RDEB) belongs to a rare group of inherited dermatoses, which are characterised by mucosal and cutaneous fragility. Cutaneous squamous cell carcinoma (CSCC) is a common complication of RDEB. In the severe subtype of RDEB (RDEB-S), CSCC is observed in 90% of the patients by 55 years. CSCC in patients with RDEB follows an aggressive course with the median survival rate of 2.4 years. We report the case of a 51-year-old female with RDEB with recurrent aggressive CSCC of the right lateral-back. She was commenced on cemiplimab, an anti-programmed death receptor-1 (PD-1) antibody, for the management of unresectable locally advanced CSCC; however, she experienced a severe infusion reaction, manifested as back pain, requiring treatment cessation. Despite three incomplete doses, the patient demonstrated a marked response with significant regression of her tumours. Therefore, further treatment was pursued. She was successfully administered cemiplimab under intravenous sedation. This was later complicated by immune-related colitis, necessitating treatment cessation. The patient was transitioned to best supportive care. The patient required inpatient admission for end-of-life care due to her complex analgesia requirements. This case report explores the pathophysiological mechanisms of pain in RDEB and anti-PD-1 antibody therapy and highlights the unique challenges of pain management in RDEB patients.